Scribd Logo
Upload

Welcome to Scribd!

  • 17 views

    American J Hematol - 2019 - Bain

    Uploaded by

    bassam alharazi
    The document discusses a case of a 19-year-old woman diagnosed with delta beta thalassemia. Testing showed microcytosis, mild hypochromia, poikilocytes and increased hemoglobin F. Genetic testing confirmed heterozygosity for the Sicilian delta beta thalassemia deletion mutation. The diagnosis of delta beta thalassemia is important as homozygosity or compound heterozygosity can lead to thalassemia intermedia.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd

    American J Hematol - 2019 - Bain

    Uploaded by

    bassam alharazi
    17 views1 page
    The document discusses a case of a 19-year-old woman diagnosed with delta beta thalassemia. Testing showed microcytosis, mild hypochromia, poikilocytes and increased hemoglobin F. Genetic testing confirmed heterozygosity for the Sicilian delta beta thalassemia deletion mutation. The diagnosis of delta beta thalassemia is important as homozygosity or compound heterozygosity can lead to thalassemia intermedia.

    Copyright

    © © All Rights Reserved

    Available Formats

    PDF, TXT or read online from Scribd

    Did you find this document useful?

    Is this content inappropriate?

    The document discusses a case of a 19-year-old woman diagnosed with delta beta thalassemia. Testing showed microcytosis, mild hypochromia, poikilocytes and increased hemoglobin F. Genetic testing confirmed heterozygosity for the Sicilian delta beta thalassemia deletion mutation. The diagnosis of delta beta thalassemia is important as homozygosity or compound heterozygosity can lead to thalassemia intermedia.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    17 views1 page

    American J Hematol - 2019 - Bain

    Uploaded by

    bassam alharazi
    The document discusses a case of a 19-year-old woman diagnosed with delta beta thalassemia. Testing showed microcytosis, mild hypochromia, poikilocytes and increased hemoglobin F. Genetic testing confirmed heterozygosity for the Sicilian delta beta thalassemia deletion mutation. The diagnosis of delta beta thalassemia is important as homozygosity or compound heterozygosity can lead to thalassemia intermedia.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    You are on page 1of 1

    Received: 16 August 2019 Accepted: 19 August 2019

    DOI: 10.1002/ajh.25623

    MORPHOLOGY UPDATE

    Delta beta thalassemia

    Barbara J. Bain

    Centre for Haematology, St Mary's Hospital Campus of Imperial College Faculty of Medicine, St Mary's Hospital, London, UK

    Correspondence
    Barbara J. Bain, Department of Haematology, St Mary's Hospital, Praed Street, London, W2 1NY. UK.
    Email: b.bain@imperial.ac.uk

    A 19-year-old woman of Lebanese ethnic origin was referred for heterozygosity with β thalassemia can lead to thalassemia intermedia. It
    investigation of microcytosis. Her blood count showed: red cell count might be expected that the hemoglobin A2 would be reduced since one
    5.32 × 10 /L, hemoglobin concentration 116 g/L, mean cell volume
    12
    δ gene has been deleted but in fact it is often normal. Hemoglobin F is
    70 fL, mean cell hemoglobin 21.8 pg and mean cell hemoglobin con- usually between 5 and 20%.
    centration 312 g/L. Her blood film showed microcytosis, mild hypo-
    chromia and poikilocytosis. The poikilocytes included elliptocytes (left
    Image) and small numbers of irregularly contracted cells (right Image). CONFLIC T OF INT ER E ST

    There were only occasional target cells. Thalassemia trait was Nothing to report.
    suspected and high performance liquid chromatography (HPLC) was
    performed. Hemoglobin A2 was normal at 2.8%, but hemoglobin F, as
    quantified by the Bio-Rad Variant II instrument (unmodified hemoglo- OR CID
    bin F), was increased to 11.8%; the total hemoglobin F was about
    Barbara J. Bain https://orcid.org/0000-0003-3077-4579
    14% if acetylated F, which is not integrated by the instrument, was
    included. The likely diagnosis now became δβ thalassemia. This diag-
    nosis was confirmed by Gap-PCR which showed heterozygosity for
    the Sicilian δβ thalassemia deletion mutation. How to cite this article: Bain BJ. Delta beta thalassemia. Am
    The diagnosis of δβ thalassemia is important, particularly in a J Hematol. 2020;95:116. https://doi.org/10.1002/ajh.25623
    patient in the reproductive age range, since homozygosity or compound

    116 © 2019 Wiley Periodicals, Inc. wileyonlinelibrary.com/journal/ajh Am J Hematol. 2020;95:116.

    You might also like

    pFad - Phonifier reborn

    Pfad - The Proxy pFad of © 2024 Garber Painting. All rights reserved.

    Note: This service is not intended for secure transactions such as banking, social media, email, or purchasing. Use at your own risk. We assume no liability whatsoever for broken pages.


    Alternative Proxies:

    Alternative Proxy

    pFad Proxy

    pFad v3 Proxy

    pFad v4 Proxy